Charcot-Marie-Tooth disease type 4B2

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.

Signs and symptoms

• Distal muscle weakness
• Distal amyotrophy
• Hyporeflexia
• Kyphoscoliosis
• Decreased motor nerve conduction velocity
• Talipes equinovarus
• Gait disturbance
• Pes cavus
• Ulnar claw
• Onion bulb formation

Also known as: CMT4B2; Charcot-Marie-Tooth neuropathy type 4B2; autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2